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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: novelli c. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Treatment and outcomes of arthrogryposis in the upper extremity.
Oishi S, Agranovich O, Zlotolow D, Wall L, Stutz C, Pajardi G, Novelli C, Abdel Ghani H, Jester A, Vuillermin C, James M, Manske MC, Beckwith T. Oishi S, et al. Among authors: novelli c. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):363-371. doi: 10.1002/ajmg.c.31722. Epub 2019 Jul 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31268234 Free article.
Treatment of the Upper Extremity Contracture/Deformities.
Oishi SN, Agranovich O, Pajardi GE, Novelli C, Baindurashvili AG, Trofimova SI, Abdel-Ghani H, Kochenova E, Prosperpio G, Jester A, Yilmaz G, Şenaran H, Kose O, Butler L. Oishi SN, et al. Among authors: novelli c. J Pediatr Orthop. 2017 Jul/Aug;37 Suppl 1:S9-S15. doi: 10.1097/BPO.0000000000001002. J Pediatr Orthop. 2017. PMID: 28594687
Hand and Upper Limb Malformations in Italy: A Multicentric Study.
Senes FM, Calevo MG, Adani R, Baldrighi C, Bassetto F, Corain M, Landi A, Lando M, Monticelli A, Novelli C, Pajardi G, Rosanda E, Rossello MI, Santecchia L, Zoccolan A, Catena N. Senes FM, et al. Among authors: novelli c. J Hand Surg Asian Pac Vol. 2021 Sep;26(3):345-350. doi: 10.1142/S2424835521500302. J Hand Surg Asian Pac Vol. 2021. PMID: 34380395
Lombardy diagnostic and therapeutic network of thrombotic microangiopathy.
Mancini I, Agosti P, Boscarino M, Ferrari B, Artoni A, Palla R, Spreafico M, Crovetti G, Volpato E, Rossini S, Novelli C, Gattillo S, Barcella L, Salmoiraghi M, Falanga A, Peyvandi F; Lombardy AREU TMA Network. Mancini I, et al. Among authors: novelli c. Orphanet J Rare Dis. 2022 Jun 23;17(1):246. doi: 10.1186/s13023-022-02400-y. Orphanet J Rare Dis. 2022. PMID: 35739601 Free PMC article.
33 results